Canonical Allele Identifier: CA252766
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3423
ClinVar RCV Id: RCV000003592 RCV000023627
dbSNP Id: rs121434231
MyVariant Identifiers: chr1:g.209963884C>A (hg19) chr1:g.209790539C>A (hg38)
PubMed: PMID:18478600
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209790539C>A , CM000663.2:g.209790539C>A GRCh38
NC_000001.10:g.209963884C>A , CM000663.1:g.209963884C>A GRCh37
NC_000001.9:g.208030507C>A NCBI36
NG_007081.2:g.20596G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1016G>T ENSP00000512426.1:p.Arg339Ile
ENST00000696134.1:c.*443G>T ENSP00000512427.1:n.*443G>T
ENST00000367021.8:c.1016G>T MANE Select ENSP00000355988.3:p.Arg339Ile
ENST00000643798.1:c.*526G>T ENSP00000496669.1:n.*526G>T
ENST00000367021.7:c.1016G>T ENSP00000355988.3:p.Arg339Ile
ENST00000542854.5:c.731G>T ENSP00000440532.1:p.Arg244Ile
NM_001206696.1:c.731G>T NP_001193625.1:p.Arg244Ile
NM_006147.3:c.1016G>T NP_006138.1:p.Arg339Ile
NM_006147.4:c.1016G>T MANE Select NP_006138.1:p.Arg339Ile
NM_001206696.2:c.731G>T NP_001193625.1:p.Arg244Ile
Search 100 bp 5'
Search 100 bp 3'